HEAT Repeat Containing Protein 5A (HEATR5A)

HEATR5A belongs to the HEATR5 family. Contains 2 HEAT repeats. The HEAT repeat domain is a protein domain found in a number of cytoplasmic proteins including the four that the give rise to the acronym HEAT (Huntingtin, elongation factor 3 (EF3), protein phosphatase 2A (PP2A), and the yeast PI3-kinase TOR1).HEAT repeats form a rod-like helical structures which are involved in intracellular transport.HEAT repeats form rod-like helical structures that are involved in intracellular transport. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the chromosome 2-localized ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes, which also map to chromosome 2.